Canonical Allele Identifier: CA658822613

Gene: PTEN

Linked Data

• ClinVar Variation Id: 560715
• ClinVar RCV Id: RCV000678976
• dbSNP Id: rs1564568303

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.87960958_87960959insGA , CM000672.2:g.87960958_87960959insGA	GRCh38
NC_000010.10:g.89720715_89720716insGA , CM000672.1:g.89720715_89720716insGA	GRCh37
NC_000010.9:g.89710695_89710696insGA	NCBI36
NG_007466.2:g.102520_102521insGA , LRG_311:g.102520_102521insGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700029.2:c.959_960insGA	ENSP00000514759.2:p.Val321LysfsTer2
ENST00000710265.1:c.866_867insGA	ENSP00000518161.1:p.Val290LysfsTer2
ENST00000472832.3:c.866_867insGA	ENSP00000483066.2:p.Val290LysfsTer2
ENST00000688158.2:n.1601_1602insGA
ENST00000688922.2:c.*696_*697insGA	ENSP00000508742.2:n.*696_*697insGA
ENST00000700021.1:c.821_822insGA	ENSP00000514757.1:p.Val275LysfsTer2
ENST00000700022.1:c.*205_*206insGA	ENSP00000514758.1:n.*205_*206insGA
ENST00000700023.1:n.2024_2025insGA
ENST00000700024.1:n.2258_2259insGA
ENST00000700025.1:n.1635_1636insGA
ENST00000700026.1:n.503_504insGA
ENST00000700029.1:c.793_794insGA
ENST00000706954.1:c.866_867insGA	ENSP00000516674.1:p.Val290LysfsTer2
ENST00000706955.1:c.*901_*902insGA	ENSP00000516675.1:n.*901_*902insGA
ENST00000686459.1:c.*452_*453insGA	ENSP00000508909.1:n.*452_*453insGA
ENST00000688158.1:c.*977_*978insGA	ENSP00000509254.1:n.*977_*978insGA
ENST00000688308.1:c.866_867insGA	ENSP00000508752.1:p.Val290LysfsTer2
ENST00000688922.1:c.787_788insGA
ENST00000693560.1:c.1385_1386insGA	ENSP00000509861.1:p.Val463LysfsTer2
ENST00000371953.8:c.866_867insGA MANE Select	ENSP00000361021.3:p.Val290LysfsTer2
ENST00000371953.7:c.866_867insGA	ENSP00000361021.3:p.Val290LysfsTer2
ENST00000472832.2:c.293_294insGA	ENSP00000483066.1:p.Val99LysfsTer2
NM_000314.5:c.866_867insGA	NP_000305.3:p.Val290LysfsTer2
NM_000314.6:c.866_867insGA	NP_000305.3:p.Val290LysfsTer2
NM_001304717.2:c.1385_1386insGA	NP_001291646.2:p.Val463LysfsTer2
NM_001304718.1:c.275_276insGA	NP_001291647.1:p.Val93LysfsTer2
XM_006717926.2:c.821_822insGA	XP_006717989.1:p.Val275LysfsTer2
XM_011539981.1:c.866_867insGA	XP_011538283.1:p.Val290LysfsTer2
XM_011539982.1:c.770_771insGA	XP_011538284.1:p.Val258LysfsTer2
XR_945791.1:n.1436_1437insGA
NM_000314.7:c.866_867insGA	NP_000305.3:p.Val290LysfsTer2
NM_001304717.5:c.1385_1386insGA	NP_001291646.4:p.Val463LysfsTer2
NM_001304718.2:c.275_276insGA	NP_001291647.1:p.Val93LysfsTer2
NM_000314.8:c.866_867insGA MANE Select	NP_000305.3:p.Val290LysfsTer2